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Journal of Medical Genetics 1991;28:499-501; doi:10.1136/jmg.28.7.499
Copyright © 1991 by the BMJ Publishing Group Ltd.

Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype.

T Tønnesen, H N Gregersen, F Güttler

John F Kennedy Institute, Glostrup, Denmark.

A mildly affected Maroteaux-Lamy patient is described. Electrophoretic separation of acid mucopolysaccharides (MPS) in the urine showed an increased excretion of dermatan sulphate in spite of a normal total excretion of MPS.


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This article has been cited by other articles:

  • Giugliani, R., Harmatz, P., Wraith, J. E. (2007). Management Guidelines for Mucopolysaccharidosis VI. Pediatrics 120: 405-418 [Abstract] [Full Text]  
  • Harmatz, P., Ketteridge, D., Giugliani, R., Guffon, N., Teles, E. L., Miranda, M. C. S., Yu, Z.-F., Swiedler, S. J., Hopwood, J. J., for the MPS VI Study Group, (2005). Direct Comparison of Measures of Endurance, Mobility, and Joint Function During Enzyme-Replacement Therapy of Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): Results After 48 Weeks in a Phase 2 Open-Label Clinical Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase. Pediatrics 115: e681-e689 [Abstract] [Full Text]  

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